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Humans [MeSH]
(3)
Whole Genome Sequencing [MeSH]
(2)
Viral infection
(1)
Ubiquitin-Activating Enzymes/genetics [MeSH]
(1)
Ubiquitin-Activating Enzymes/deficiency [MeSH]
(1)
Transcription Factors/genetics [MeSH]
(1)
Transcription Factors/deficiency [MeSH]
(1)
Signaling pathway
(1)
Signal Transduction [MeSH]
(1)
Protein Interaction Maps [MeSH]
(1)
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Artikel
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Erscheinungsjahr
2021
(3)
2020
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4 Treffer
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Operations
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19
2021 .
Schmidt, Axel
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Peters, Sophia
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Knaus, Alexej
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Sabir, Hemmen
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Hamsen, Frauke
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Maj, Carlo
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Fazaal, Julia
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Sivalingam, Sugirthan
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Savchenko, Oleksandr
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Mantri, Aakash
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Holzinger, Dirk
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Neudorf, Ulrich
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Müller, Andreas
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Ludwig, Kerstin U.
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Krawitz, Peter
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Engels, Hartmut
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Nöthen, Markus
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Bagci, Soyhan
2021
http://purl.org/ontology/bibo/Article
Genome sequencing in families with congenital limb malformations
2021 .
Elsner, Jonas
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Mensah, Martin A.
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Holtgrewe, Manuel
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Hertzberg, Jakob
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Bigoni, Stefania
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Busche, Andreas
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Coutelier, Marie
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de Silva, Deepthi C.
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Elçioglu, Nursel
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Filges, Isabel
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Gerkes, Erica
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Girisha, Katta M.
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Graul-Neumann, Luitgard
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Jamsheer, Aleksander
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Krawitz, Peter
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Kurth, Ingo
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Markus, Susanne
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Megarbane, Andre
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Reis, André
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Reuter, Miriam S.
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Svoboda, Daniel
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Teller, Christopher
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Tuysuz, Beyhan
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Türkmen, Seval
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Wilson, Meredith
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Woitschach, Rixa
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Vater, Inga
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Caliebe, Almuth
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Hülsemann, Wiebke
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Horn, Denise
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Mundlos, Stefan
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Spielmann, Malte
2021
http://purl.org/ontology/bibo/Article
Combining callers improves the detection of copy number variants from whole-genome sequencing
2021 .
Coutelier, Marie
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Holtgrewe, Manuel
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Jäger, Marten
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Flöttman, Ricarda
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Mensah, Martin Atta
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Spielmann, Malte
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Krawitz, Peter
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Horn, Denise
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Beule, Dieter
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Mundlos, Stefan
2021
http://purl.org/ontology/bibo/Article
Integrative analysis of key candidate genes and signaling pathways in autoimmune thyroid dysfunction related to anti-CTLA-4 therapy by bioinformatics
2020 .
Zhang, Ying
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Garofano, Francesca
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Wu, Xiaolong
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Schmid, Matthias
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Krawitz, Peter
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Essler, Markus
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Schmidt-Wolf, Ingo G. H.
2020
http://purl.org/ontology/bibo/Article